A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factors | Zendy

Paul Brady | Zendy; Barbara Delle Chiaie | Zendy; Gabrielle Christenhusz | Zendy; Kris Dierickx | Zendy; Kris Van Den Bogaert | Zendy; Björn Menten | Zendy; Sandra Janssens | Zendy; Paul Defoort | Zendy; Ellen Roets | Zendy; E Sleurs | Zendy; Kathelijn Keymolen | Zendy; Luc De Catte | Zendy; Jan Deprest | Zendy; Thomy de Ravel | Zendy; Hilde Van Esch | Zendy; J. P. Fryns | Zendy; Koenraad Devriendt | Zendy; Joris Vermeesch | Zendy

Open Access

A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factors

Author(s) -

Paul Brady,

Barbara Delle Chiaie,

Gabrielle Christenhusz,

Kris Dierickx,

Kris Van Den Bogaert,

Björn Menten,

Sandra Janssens,

Paul Defoort,

Ellen Roets,

E Sleurs,

Kathelijn Keymolen,

Luc De Catte,

Jan Deprest,

Thomy de Ravel,

Hilde Van Esch,

J. P. Fryns,

Koenraad Devriendt,

Joris Vermeesch

Publication year - 2013

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1038/gim.2013.168

Subject(s) - comparative genomic hybridization , prenatal diagnosis , chromosomal translocation , copy number variation , medicine , clinical significance , microarray , fetus , prospective cohort study , karyotype , ultrasound , dna microarray , chromosome , obstetrics , bioinformatics , genetics , biology , pregnancy , pathology , genome , radiology , gene , gene expression

To evaluate the clinical utility of chromosomal microarrays for prenatal diagnosis by a prospective study of fetuses with abnormalities detected on ultrasound.

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